Master's in Genetic Counseling (MGC)

Galactosemia Screening in Virginia

Screening for galactosemia in the state of Virginia is performed using two different methods. The Beutler method is used to determine the presence of the galactose-1-phosphate uridyl transferase enzyme in the dried filter paper blood spot. The Hill method is used to determine the level of total galactose that is present in the dried filter paper blood spot. A serum analysis is required for diagnostic testing.

The follow-up recommendations for galactosemia screens in the state of Virginia are as follows:

Newborn Screening Result	Interpretation	Follow-Up Action Recommended
initial Beutler indicates enzyme activity is present, initial Hill indicates total galactose <10 mg/dl	within normal limits	none
initial Beutler indicates enzyme activity is present, Hill indicates total galactose 10-14 mg/dl	Beutler indicates galactose-1-phosphate uridyl transferase activity is within normal limits, Hill indicates abnormal elevation of total galactose	A repeat filter paper specimen is required. If the repeat is abnormal, immediately refer the patient for serum diagnostic testing through one of the pediatric metabolic consultants.
initial Beutler abnormal, Hill indicates total galactose 10-14 mg/dl	Beutler indicates no galactose-1-phosphate uridyl transferase activity, Hill indicates abnormal elevation of total galactose A repeat filter paper specimen is required.	If the repeat is abnormal, immediately refer the patient for serum diagnostic testing through one of the pediatric metabolic consultants.
initial Beutler abnormal, Hill indicates total galactose >15 mg/dl	Beutler indicates no galactose-1-phosphate uridyl transferase activity, Hill indicates abnormal elevation of total galactose	Immediately refer the patient for serum diagnostic testing through one of the pediatric metabolic consultants.
initial Beutler indicates enzyme activity is present, Hill indicates total galactose >15 mg/dl	Beutler indicates galactose-1-phosphate uridyl transferase activity is within normal limits, Hill indicates abnormal elevation of total galactose	Immediately refer the patient for serum diagnostic testing through one of the pediatric metabolic consultants.
initial Beutler abnormal, Hill indicates total galactose <10 mg/dl	Beutler indicates no galactose-1-phosphate uridyl transferase activity, Hill indicates total galactose levels are within normal limits	A repeat filter paper specimen is required. If the repeat is abnormal, obtain a third filter paper specimen. If the third filter paper specimen is abnormal, immediately refer the patient for serum diagnostic testing through one of the pediatric metabolic consultants.

 

All critical screening results are called out by the state laboratory to the Newborn Screening follow-up staff at the Virginia Department of Health. The follow-up staff will notify the appropriate consultant/physician.

 

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